Experts target lethal gene disorder Krabbe disease

The meeting will discuss the latest advances in screening for the condition and treatments such as stem cell transplants and gene therapy. Picture: TSPL
The meeting will discuss the latest advances in screening for the condition and treatments such as stem cell transplants and gene therapy. Picture: TSPL
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INTERNATIONAL medical experts meet in Scotland this week in the hope of helping to save the lives of babies struck by a devastating genetic disorder.

Krabbe disease, a rare condition affecting the nervous system, causes a rapid deterioration including seizures, problems with movement, blindness and death before the age of two.

However, there is now hope that new treatments to improve life expectancy, alongside screening to identify sufferers early, could radically improve the lives of these children.

Charity Save Babies UK has organised the two-day “scientific workshop” in Clydebank, which starts on Tuesday, bringing in experts to discuss the best way to deal with Krabbe disease.

The meeting – the first of its kind in Europe – will discuss the latest advances in screening for the condition and treatments such as stem cell transplants and gene therapy.

Pat Roberts, executive director of Save Babies UK, said the conference would cover every aspect of Krabbe disease, including research into new treatments for the condition.

It will also look at the prospects for newborn screening and how it could potentially help save babies’ lives if introduced in the UK.

Babies in Scotland and the rest of the UK receive a blood test around five days after birth which screens for a range of conditions including cystic fibrosis and sickle cell disease.

But campaigners would like it to include other conditions, including Krabbe disease which affects around two to three families in the UK each year.

“In some states in the US they do screen for Krabbe disease,” Roberts said. “In New York state and Missouri they screen for the condition. Some other states are in the process of introducing it over the next two years.

“If you can establish that an infant has got the disease at birth, before they start being ill, then you can give them a stem cell transplant using donated umbilical cord blood.”

Roberts, however, acknowledged that the transplantation was not without its risks.

“Some children die from the complications of the transplantation, but at least parents have a choice,” she said. “But the fact is that in this country, all the children die because there is no screening.”
Roberts said in many cases the treatment was very successful.

“Some of the children are fine. If you saw them you would not know the difference. Neurologically they are brilliant, top of the class at school,” she said.

“But there are some where the physical issues mean they are in wheelchairs because their limbs are still affected to some extent.

“We don’t want a situation where you are forcing parents down a route they don’t want to go, but they should have the choice.

“For example, in New York State some parents have taken the decision not to do anything. They will have the best life with their child for up to two years, whereas others
will fight and do anything they can to save the life of their child.”

Professor Timothy Cox, professor of medicine at Cambridge University and one of the experts speaking at the conference, said treatments for Krabbe disease were desperately needed as families were left devastated by the “brutal condition”.

“The child is born normal, but then goes downhill terribly quickly,” he said.

“The child becomes very irritable, very unwell, fails to thrive, loses the capacity to see.

“They may have seizures and they choke, needing feeding tubes. It is really desperate to see.”

Cox said the current treatments offered in the US states which screened for Krabbe disease were risky and controversial, with not all children surviving.

He said for screening to be effective, better treatments needed to become available. But he said there was hope in the form of advances in gene therapy for similar diseases.

“The treatments that have any effect at the moment are pretty Draconian – the equivalent of bone marrow transplantation in the first few days of life,” Cox said.

“This seems to have some strong benefit but it is not a cure.

“There are gene therapy initiatives in a related disease where you can take bone marrow cells from a patient and introducing several copies of the active, normal gene into them and re-infuse them.”

Melanie MacPherson from Cardross, whose son Jack died from Krabbe disease, said families needed hope and babies should not be allowed to keep dying.

MacPherson, vice-chair of Save Babies UK, said: “We hope that lessons learned from the workshop will advance the understanding and treatment of Krabbe disease and take us one step closer on the long road to finding a cure.

“Too many parents in the UK and around the world have had to face the heart-breaking news that their child has Krabbe disease or another life-limiting rare inherited disease.”